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Short stature, myopia, severe developmental delay, and peculiar facial appearance in two brothers: A new syndrome?

✍ Scribed by Achermann, Sibylla; Largo, Remo; Kotzot, Dieter; Riegel, Mariluce; Schinzel, Albert

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 44 KB
Volume: 86
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19991029)86:5<486::aid-ajmg16>3.0.co;2-6

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✦ Synopsis

We report on 2 brothers with short stature, microcephaly, myopia, retarded osseous maturation, severe developmental delay, and minor anomalies including temporal narrowing, periorbital fullness, full cheeks in infancy, and protruding lower lip. Both brothers and their parents had normal chromosomes. Fluorescence in situ hybridization with probes from all (sub-)telomeric chromosomal regions excluded a structural rearrangement involving telomeric segments. Because the pattern of congenital abnormalities is not like that of any wellknown multiple congenital anomaly/mental retardation syndrome, we suggest a previously undescribed syndrome of autosomal recessive or X-linked inheritance. Am. J. Med. Genet. 86:486-491, 1999.

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